S116F (p.Ser116Phe) variant of LRP2 (P98164)
S116F (p.Ser116Phe) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S116F (p.Ser116Phe) variant details
- p.Ser116Phe
- rs776383533
- ClinGen CA1955908
- cosmic curated COSV10723
- ClinVar RCV002014157
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available